ClinVar for Gene (Select 25809) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184510	NM_012263.5(TTLL1):c.818G>A (p.Arg273His)	TTLL1 (R273H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184509	NM_012263.5(TTLL1):c.658C>T (p.Arg220Trp)	TTLL1 (R220W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184507	NM_012263.5(TTLL1):c.1070C>T (p.Pro357Leu)	TTLL1, TTLL1-AS1 (P357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
Select item 2609972	NM_012263.5(TTLL1):c.707T>C (p.Met236Thr)	TTLL1 (M236T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520525	NM_012263.5(TTLL1):c.577A>G (p.Arg193Gly)	TTLL1 (R193G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518427	NM_012263.5(TTLL1):c.712G>A (p.Val238Ile)	TTLL1 (V238I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486576	NM_012263.5(TTLL1):c.722C>G (p.Thr241Ser)	TTLL1 (T241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456651	NM_012263.5(TTLL1):c.619C>T (p.Arg207Cys)	TTLL1 (R207C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412287	NM_012263.5(TTLL1):c.1001C>T (p.Thr334Met)	TTLL1, TTLL1-AS1 (T334M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371103	NM_012263.5(TTLL1):c.1229G>A (p.Arg410Gln)	TTLL1, TTLL1-AS1 (R410Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298363	NM_012263.5(TTLL1):c.670G>A (p.Val224Met)	TTLL1 (V224M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287890	NM_012263.5(TTLL1):c.1192A>G (p.Ser398Gly)	TTLL1, TTLL1-AS1 (S398G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281867	NM_012263.5(TTLL1):c.1081A>G (p.Ile361Val)	TTLL1, TTLL1-AS1 (I361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241370	NM_012263.5(TTLL1):c.767A>G (p.His256Arg)	TTLL1 (H256R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229585	NM_012263.5(TTLL1):c.585C>A (p.Phe195Leu)	TTLL1 (F195L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1341047	GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3	BIK, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979609	GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1	BIK, TSPO +7 more	Copy number loss	not provided	GUncertain significance
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 720636	NM_012263.5(TTLL1):c.824A>G (p.Lys275Arg)	TTLL1 (K275R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 686725	GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1	ARFGAP3, PACSIN2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 564990	GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3	TSPO, MCAT +4 more	Copy number gain	not provided	GLikely benign
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 403580	NM_012263.5(TTLL1):c.720C>T (p.Leu240=)	TTLL1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 403579	NM_012263.5(TTLL1):c.750G>A (p.Glu250=)	TTLL1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 403578	NM_012263.5(TTLL1):c.849C>T (p.Asp283=)	TTLL1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 403577	NM_012263.5(TTLL1):c.894G>A (p.Pro298=)	TTLL1, TTLL1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 403576	NM_012263.5(TTLL1):c.1242G>A (p.Ser414=)	TTLL1, TTLL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221772	GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1	ARFGAP3, LOC112695101 +19 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC130067881, LOC130067882 +523 more	Copy number gain	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 152139	GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3	LOC130067622, LOC130067623 +5 more	Copy number gain	See cases	GUncertain significance
Select item 149875	GRCh38/hg38 22q13.2(chr22:42903977-43046322)x1	LOC112695101, LOC112695102 +9 more	Copy number loss	See cases	GLikely benign
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	LOC130067636, LOC130067637 +492 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	A4GALT, ARFGAP3 +303 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC132090656, LOC132090657 +495 more	Copy number gain	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	LOC130067875, LOC130067876 +502 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	ACR, ADM2 +483 more	Copy number loss	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74